Why Choose Us for Rare Lung Diseases

The Division of Pulmonary and Sleep Medicine is ranked among the best in the nation on U.S. News & World Report’s prestigious 2023-24 Honor Roll of Best Children's Hospitals. Because of the large number of patients seen in the division — more than 14,000 a year — we have more experience treating children with rare lung diseases than hospitals that see fewer patients.

Holistic approach to care

Our approach includes an initial clinical exam by a pulmonologist accompanied, as needed, by a dietitian, as many of these children also have trouble gaining weight and growing adequately. For children who have a co-existing cardiac condition, such as pulmonary hypertension, a cardiologist joins the team. A full range of other expert subspecialty consultants are available and work closely with our Pulmonary team on a regular basis. Our team meets regularly to review complex cases in a multidisciplinary format, including other subspecialists, and review of lung biopsies when performed.

Many rare lung diseases have a genetic component. The program’s genetic counselor will explain why genetic testing may be recommended, what it entails and what to expect. The genetic counselor will also take a comprehensive family history and discuss risk of genetic conditions to other family members. Once results are in, the genetic counselor will review them with the family and coordinate testing for other at-risk family members if needed. Our genetic counselor will also provide patient-family education and support to your family.

The program’s social worker will help families manage insurance issues and logistics of travel, as patients come from all over the United States for second opinions and care. While identifying and optimizing opportunities and resources to support the child and family in coordinating medical care, our social worker is also a trained counselor and can help families cope with stressful diagnoses and deal with the accompanying emotions.

Access to advanced diagnostic methods

Rare lung diseases can be difficult to diagnose, often resulting in families receiving a diagnosis of “lung disease of unspecified etiology” (or cause). Since an accurate diagnosis is the first step to the best treatment, children cared for in the Rare Lung Diseases Center have rapid access to a wealth of diagnostic tools, some not available elsewhere.

We have a state-of-the-art Pulmonary Function Test Lab, that offers the full range of breathing tests, and our Pulmonary Advanced Diagnostic Center, which is pioneering robotic and minimally invasive methods of bronchoscopy.

Genetic testing may also be a path to a diagnosis. The program works closely with the genetic counselor, Roberts Individualized Medical Genetic Center and Center for Applied Genomics to identify the most appropriate genetic test(s) and to interpret the results.

These tools assist our pulmonologists to most accurately define a child’s specific rare lung disease diagnosis and features, opening up the possibility for novel targeted and tailored therapies.

Unparalleled research

The Rare Lung Disease Center’s robust research arm is active in basic science research (lab work to uncover the biology behind rare lung diseases) and in patient-orientated research (determining which treatments result in the best outcomes).

Our research aims to:

  • Discover the novel genetic basis of rare lung diseases
  • Identify and use novel pulmonary biomarkers for rapid diagnosis and disease progression prediction
  • Establish clinical standards of care
  • Create individualized treatments based on a child’s specific disease phenotype

We also lead collaborations across the country, such as the National Registry for Childhood Interstitial and Diffuse Lung Diseases, to advance collective knowledge and best practices for rare lung diseases.

The center is also an active site for clinical trials. This provides patients access to new medications as they become available, if the children are eligible.